Nakhl Sahar, Sleilaty Ghassan, Chouery Eliane, Salem Nabiha, Chahine Ramez, Farès Nassim
Research Laboratory in Physiology and Physiopathology (LRPP), Health Technology Centre, Faculty of Medicine, Saint Joseph University, Beirut, Lebanon.
Research Laboratory in Oxidative Stress and Antioxidants, Faculty of Medical Sciences and Doctoral School in Science and Technology, Lebanese University, Beirut, Lebanon.
Arch Med Sci Atheroscler Dis. 2019 Dec 31;4:e298-e303. doi: 10.5114/amsad.2019.91437. eCollection 2019.
The biological actions of vitamin D are mediated through vitamin D receptor (VDR). Numerous single-nucleotide polymorphisms (SNPs) in the VDR gene have been identified, and some have been associated with cardiovascular disease (CVD) risk factors. This study aims to evaluate the association of five SNPs in the VDR gene with 25-hydroxyvitamin D (25[OH]D) levels in patients with at least one CVD risk factor.
Genomic DNA was sequenced using standard Sanger methods for five VDR SNPs (I rs1544410; I rs7975232; 2 rs11568820; I rs731236; I rs2228570) in 50 Mediterranean subjects having hypovitaminosis D with at least one documented CVD risk factor, aged 18 years or more. The collected variables were serum levels of (25[OH]D), HbA, fasting plasma glucose, triglycerides, LDL cholesterol, and total cholesterol.
I, I, and I were moderately to highly intercorrelated. 2 was less frequent than expected. With respect to the number of mutations in I, levels of (25 [OH]D) were 11.2 ±5.5 ng/ml in the absence of mutations, 12.6 ±4.7 ng/ml in the presence of one mutation, and 16.5 ± 5.5 ng/ml in the presence of two mutations.
I polymorphism is more frequent in subjects with cardiovascular risk factors than in the general Caucasian population.
维生素D的生物学作用是通过维生素D受体（VDR）介导的。VDR基因中已鉴定出许多单核苷酸多态性（SNP），其中一些与心血管疾病（CVD）风险因素相关。本研究旨在评估VDR基因中的五个SNP与至少有一个CVD风险因素的患者的25-羟基维生素D（25[OH]D）水平之间的关联。
采用标准桑格法对50名年龄在18岁及以上、患有维生素D缺乏症且至少有一个记录在案的CVD风险因素的地中海受试者的五个VDR SNP（I rs1544410；I rs7975232；2 rs11568820；I rs731236；I rs2228570）进行基因组DNA测序。收集的变量包括血清（25[OH]D）水平、糖化血红蛋白、空腹血糖、甘油三酯、低密度脂蛋白胆固醇和总胆固醇。
I、I和I之间存在中度至高度的相互关联。2的出现频率低于预期。关于I中的突变数量，在无突变的情况下，（25[OH]D）水平为11.2±5.5 ng/ml，有一个突变时为12.6±4.7 ng/ml，有两个突变时为16.5±5.5 ng/ml。
与一般白种人群相比，心血管风险因素患者中I多态性更为常见。
